(used for variant description)
(last modified February 13, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_032131.4 in the ARMC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering ARMC2 transcript NM_032131.4.
(upstream sequence)
. . . . . g.5054
aggcccagtggccgagcggcgtcgtggggttaccccgcccgcgccagcgctgca c.-121
. . . . . . g.5114
tccctggccgctacccggggagagccggaggatgaattgaacctcgcagccgctgctatc c.-61
. . | 02 . . . . g.10852
tccagtgctcatcacag | ggtgtggtgtctatctgaagaatattttactttcaaaggaaag c.-1
. . . . . . g.10912
ATGCTGTCTCCAAATGATAAAATGTTAGGAAAACTGGATCCATTTTATCAACCTTCAGTG c.60
M L S P N D K M L G K L D P F Y Q P S V p.20
. . . . . . g.10972
TCCAAGCAGAAGACCAGTGCAGAAATCATAAGTGAAGCAAGAAATGCATTAAGAACAGTT c.120
S K Q K T S A E I I S E A R N A L R T V p.40
. . . . . . g.11032
AGAACCCAAAGACCATTTACACCACAGGAGGCTCAAAGAAAACTATTCGGACCTGCATCC c.180
R T Q R P F T P Q E A Q R K L F G P A S p.60
. . . | 03 . . g.14805
TCAAGAACATCAGAAAATAGACCTCCTTCCTCCTTCAG | CCTCCATGCATCCAGTTTTGAG c.240
S R T S E N R P P S S F S | L H A S S F E p.80
. . . . . | 04 . g.25417
TCATCTGATTCCAGGCCTATCTCTGGCACACGTCTTAGTCCACTAGAGCTG | AAACCGAAA c.300
S S D S R P I S G T R L S P L E L | K P K p.100
. . . . . . g.25477
GTTCCAGCATCTCCCACCAGAGAGGAGGATTCCTGCTTTTCCTTTCCTAAGCCCCCAGTG c.360
V P A S P T R E E D S C F S F P K P P V p.120
. . . . . . g.25537
GACCCTGCGAAGATTAGAAGAGTAAGCAACGCCAGGGCTCGCTTATTCAGGGCTGCCTCC c.420
D P A K I R R V S N A R A R L F R A A S p.140
. . . . | 05 . . g.32744
CAGCGGGCCCTTCTGCCGGACAGATCCCTTCCTCCCTCCGACT | CAAAGAAGACAGTGGAA c.480
Q R A L L P D R S L P P S D S | K K T V E p.160
. . . . . . g.32804
TCCAAAGAAACAGTTATGATGGGGGACTCTATGGTGAAAATAAATGGGATTTATTTAACA c.540
S K E T V M M G D S M V K I N G I Y L T p.180
. . . . . . g.32864
AAATCAAATGCTATTTGCCACTTAAAGAGTCACCCACTTCAGCTAACTGATGATGGAGGC c.600
K S N A I C H L K S H P L Q L T D D G G p.200
. . . . . . g.32924
TTCAGTGAAATAAAGGAGCAAGAAATGTTCAAAGGAACAACATCTTTACCATCTCATCTC c.660
F S E I K E Q E M F K G T T S L P S H L p.220
. | 06 . . . . . g.51100
AAGAATGGAGG | GGACCAGGGGAAGAGACATGCGAGGGCCTCATCATGCCCCAGTAGCTCA c.720
K N G G | D Q G K R H A R A S S C P S S S p.240
. . | 07 . . . g.56310
GACCTGAGCAGGCTGCAAACCAAAGCAG | TCCCAAAAGCTGACCTGCAAGAAGAGGACGCA c.780
D L S R L Q T K A V | P K A D L Q E E D A p.260
. . . . . . g.56370
GAAATAGAAGTAGACGAAGTCTTTTGGAATACAAGGATTGTACCGATTTTGCGTGAATTA c.840
E I E V D E V F W N T R I V P I L R E L p.280
| 08. . . . . . g.60867
GAAAAGG | AAGAAAACATTGAAACGGTTTGTGCTGCTTGCACACAACTTCATCATGCTTTA c.900
E K E | E N I E T V C A A C T Q L H H A L p.300
. . . . . . g.60927
GAGGAAGGAAACATGCTTGGAAATAAATTTAAGGGAAGAAGTATTCTCCTGAAGACCCTG c.960
E E G N M L G N K F K G R S I L L K T L p.320
. . . . . . g.60987
TGTAAACTAGTTGATGTTGGTTCAGACTCGCTCAGCCTTAAACTTGCAAAAATAATTCTA c.1020
C K L V D V G S D S L S L K L A K I I L p.340
| 09 . . . . . . g.67540
GCA | CTTAAAGTGAGTAGAAAGAATCTTCTTAATGTCTGCAAACTTATATTTAAAATTAGC c.1080
A | L K V S R K N L L N V C K L I F K I S p.360
. . . . | 10 . . g.68933
AGGAATGAGAAGAATGATTCTTTGATTCAAAATGACAGCATTCTGG | AATCATTATTGGAG c.1140
R N E K N D S L I Q N D S I L E | S L L E p.380
. . . . . . g.68993
GTACTAAGAAGTGAAGACCTGCAAACTAACATGGAAGCTTTTTTATACTGTATGGGGTCT c.1200
V L R S E D L Q T N M E A F L Y C M G S p.400
. . . . . . g.69053
ATAAAGTTCATTTCTGGAAATCTGGGATTTCTTAATGAAATGATCAGCAAAGGTGCTGTG c.1260
I K F I S G N L G F L N E M I S K G A V p.420
. . . . . . g.69113
GAAATACTGATAAATTTGATAAAACAAATAAATGAGAACATCAAGAAATGTGGTACATTT c.1320
E I L I N L I K Q I N E N I K K C G T F p.440
. . . | 11 . . . g.84702
TTGCCTAATTCGGGCCACTTGCTAGTCCAG | GTGACTGCTACATTGAGAAACTTGGTTGAT c.1380
L P N S G H L L V Q | V T A T L R N L V D p.460
. . . . . . g.84762
TCATCATTAGTAAGAAGTAAGTTCCTAAACATCAGTGCCCTTCCCCAGCTCTGCACGGCA c.1440
S S L V R S K F L N I S A L P Q L C T A p.480
. . . . . | 12 . g.93488
ATGGAACAGTACAAGGGTGACAAGGACGTCTGTACCAATATTGCCAGAATATTCAG | CAAA c.1500
M E Q Y K G D K D V C T N I A R I F S | K p.500
. . . . . . g.93548
CTTACTTCTTACCGTGACTGCTGCACAGCCTTGGCCAGCTATTCCAGATGTTATGCCTTA c.1560
L T S Y R D C C T A L A S Y S R C Y A L p.520
. . . | 13 . . . g.109641
TTTCTGAATCTAATTAACAAATACCAGAAGAAGCAG | GATTTAGTCGTCCGTGTTGTTTTT c.1620
F L N L I N K Y Q K K Q | D L V V R V V F p.540
. . . . . . g.109701
ATTCTTGGCAACCTGACGGCAAAAAATAACCAGGCTCGTGAACAATTTTCCAAAGAGAAA c.1680
I L G N L T A K N N Q A R E Q F S K E K p.560
. . . . . . g.109761
GGGAGCATCCAAACTCTGCTGTCATTATTCCAGACGTTCCATCAGCTGGATCTGCATTCC c.1740
G S I Q T L L S L F Q T F H Q L D L H S p.580
. . . . . . g.109821
CAGAAGCCGGTGGGCCAACGAGGCGAGCAGCACAGGGCGCAGAGGCCGCCGTCAGAGGCA c.1800
Q K P V G Q R G E Q H R A Q R P P S E A p.600
. . . . . . g.109881
GAGGACGTGCTCATCAAGCTGACTCGTGTGCTGGCCAACATTGCCATCCACCCGGGCGTG c.1860
E D V L I K L T R V L A N I A I H P G V p.620
. . . . . | 14 . g.118161
GGCCCGGTGCTGGCCGCCAACCCGGGGATAGTGGGCCTGCTCCTGACCACGCTGG | AATAC c.1920
G P V L A A N P G I V G L L L T T L E | Y p.640
. . . . . . g.118221
AAGTCACTTGATGATTGTGAGGAGCTGGTGATCAATGCTACAGCGACAATCAACAATTTA c.1980
K S L D D C E E L V I N A T A T I N N L p.660
. . . . . | 15 g.118600
TCTTACTACCAAGTGAAGAATTCCATAATTCAAGACAAAAAGCTATATATTGCTGAAT | TG c.2040
S Y Y Q V K N S I I Q D K K L Y I A E L | p.680
. . . . . . g.118660
CTCTTAAAGCTTCTTGTCAGTAACAACATGGATGGAATCCTGGAGGCTGTGCGTGTTTTC c.2100
L L K L L V S N N M D G I L E A V R V F p.700
. . . . . | 16 . g.120772
GGAAATCTCTCCCAGGACCATGATGTCTGCGATTTCATTGTGCAGAACAATG | TCCACAGG c.2160
G N L S Q D H D V C D F I V Q N N V | H R p.720
. . . . . . g.120832
TTCATGATGGCGCTGCTGGATGCTCAGCATCAGGATATCTGCTTTTCTGCCTGTGGTGTT c.2220
F M M A L L D A Q H Q D I C F S A C G V p.740
. . . . . . g.120892
CTCCTCAATCTCACTGTGGATAAAGACAAGCGTGTCATCTTGAAAGAAGGAGGTGGCATT c.2280
L L N L T V D K D K R V I L K E G G G I p.760
| 17 . . . . . . g.121619
AAAAA | GTTAGTGGACTGTTTAAGAGATTTGGGTCCTACTGATTGGCAGCTGGCCTGCTTG c.2340
K K | L V D C L R D L G P T D W Q L A C L p.780
. . . . . . g.121679
GTTTGTAAAACTTTATGGAACTTCAGTGAAAACATCACTAATGCTTCGTCATGTTTTGGA c.2400
V C K T L W N F S E N I T N A S S C F G p.800
. . . . | 18 . . g.129955
AATGAAGACACCAACACACTCTTACTCTTGCTCTCATCATTTTTAG | ATGAAGAACTAGCA c.2460
N E D T N T L L L L L S S F L D | E E L A p.820
. . . . . . g.130015
CTGGATGGCAGTTTTGATCCAGACCTAAAAAACTATCACAAACTCCATTGGGAAACAGAA c.2520
L D G S F D P D L K N Y H K L H W E T E p.840
. . . . . . g.130075
TTCAAACCTGTGGCACAGCAGCTTCTAAACCGAATTCAGAGACATCACACCTTCCTGGAA c.2580
F K P V A Q Q L L N R I Q R H H T F L E p.860
. . g.130099
CCCCTGCCCATTCCCTCTTTCTAA c.2604
P L P I P S F X p.867
. . . . . . g.130159
catgatgcagattaacagtagaaacgagaactcacgtctccctcattcttaagaactggt c.*60
. . . . . . g.130219
aacaaacgtgaacatttttttcagcattaacaaatgtggaaagtttttcaagaactggtt c.*120
. . . . . . g.130279
ttagtgagtagctgaagtattttttaaaattaagcatttcttcttgttaggtattatgga c.*180
. . . . . . g.130339
aaaatgaatatacacattatatttcctgttgagagaaatgtaagatgaaaatatgtgcat c.*240
. . . . . . g.130399
tttcaagtaaatgactttttcttctattctctattaaacaatttagttctagtcttaaaa c.*300
. . . . . . g.130459
tcttgatttaacaattttggaattgaagtgttcataagttaaatgaactgtgcaatgaag c.*360
. . . . . . g.130519
gctgttagattatatagaaagaagggtaggcaacatgagtggaacacgttacaacatagg c.*420
. . . . . . g.130579
atctgtactaattcttactatgtcaaataataaatgctctcattaggtaccagtattttt c.*480
. . . . . . g.130639
ttggtctttatattaagagaaggagtaagcagaaaaacttaaagaaaactgctttgggcc c.*540
. . . . . . g.130699
atctgttctttattaaataagtaaaatagataaaatgagagtatattttcatttgaaata c.*600
. . . g.130734
aaatgactggactaagacagtccttctaattgtaa c.*635
(downstream sequence)
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